Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration

Abstract

Familial Hypercholesterolemia (FH) is the most common and serious monogenic disorder of lipoprotein metabolism that leads to premature coronary heart disease. There are over 65,000 people estimated to have FH in Australia, but many remain undiagnosed. Patients with FH are often undertreated, but with early detection, cascade family testing and adequate treatment, patient outcomes can improve. Patient registries are key tools for providing new information on FH and enhancing care worldwide. The development and design of the FH Australasia Network Registry is a crucial component in the comprehensive model of care for FH, which aims to provide a standardized, high-quality and cost-effective system of care that is likely to have the highest impact on patient outcomes. Informed by stakeholder engagement, the FH Australasia Network Registry was collaboratively developed by government, patient and clinical networks and research groups. The open-source, webbased Rare Disease Registry Framework was the architecture chosen for this registry owing to its open-source standards, modular design, interoperability, scalability and security features; all these are key components required to meet the ever changing clinical demands across regions. This paper provides a high level blueprint for other countries and jurisdictions to help inform and map out the critical features of an FH registry to meet their particular health system needs.

Knowns and unknowns in the care of pediatric familial hypercholesterolemia

“…Registries facilitate research and education and lead to better health outcomes for patients (112). Several FH registries have been established or are in development (111,(113)(114)(115)(116)(117)(118)(119)(120). The longest existing pediatric registry started in the The Netherlands in 1989 and has provided much of the information on which current knowledge is based (60,121).…”

Improving hypertension surveillance from a data management prospective: Data requirements for implementation of population-based registry

“…Clinical registries, albeit being valuable instruments, are difficult to initially develop and implement, requiring the involvement of a multidisciplinary team. [ 17 ] This project was structured in two phases: initially, the aim was to define the variables required to be included in the HTN registry; the second goal was establishing the registry.…”

Screening for familial hypercholesterolaemia in primary care: Time for general practice to play its part

“…The potential of FH Registries [78][79][80][81] and improved coding for FH needs to be linked to screening approaches and establishment and harmonisation of the clinical diagnosis [1,26,77]. Primary care has a key role to play but lacks the infrastructure and supports offered by hospital lipid clinics.…”